Gaucher Disease Type 1
Gaucher disease (pronounced go-shay) is a rare, progressive, inherited, genetic condition that causes a fatty substance called glucosylceramide (also called GL-1) to build up in certain organs or bones. As GL-1 builds up, patients may experience excessive bruising and bleeding, and protruding abdomen caused by swelling of the liver and/or spleen. The buildup of GL-1 affects different systems throughout the body, primarily blood and organs such as the liver, spleen and bones.
Deficiency in red blood cells (anemia) which may cause fatigue
Reduced blood clotting cells (platelets) which makes it harder for blood to clot and may cause bruising or bleeding
Enlarged liver and/or spleen, which may cause a distended or enlarged abdomen
Bone problems such as delayed growth (in children), bone weakness, pain and/or erosion
Early diagnosis and treatment remain important. A blood test can confirm a diagnosis of Gaucher disease. Genetic testing can also be done to additionally confirm a diagnosis and identify altered genes and carriers.
Cerdelga (eliglustat) capsules
miglustat capsules
Cerdelga (eliglustat)
CERDELGA is a glucosylceramide synthase inhibitor indicated for the long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test.
miglustat
Miglustat is indicated for the treatment of adult patients with mild to moderate type 1 Gaucher disease for whom enzyme replacement therapy is not a therapeutic option (e.g. due to constraints such as allergy, hypersensitivity, or poor venous access).
Patient Resources
National Organization for Rare Disorders (NORD) supports patient advocacy, education, and research.
The Gaucher Community Alliance supports patients and their families through peer-to peer support and education, advocacy, patient and family resources, and networking.
The National Gaucher Foundation is a non-profit organization that supports medical research into causes of Gaucher disease.
